Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Table 1 Summary of the clinical phenotypes of the patients presented in Fig. 2

Clinical features	Present case	Lyle case 32	Lyle case 33	Roberson GM08210	Roberson GM00137	Roberson GM06918	Lindstrand Pt3	Roberson Pt3	Lindstrand Pt2	Click	Orti LAE	Shinawi Pt3	Lyle case 38	Byrd	Thevenon
Sex	F	U	U	F	M	M	M	F	F	F	U	F	U	F	M
Age at latest examination^a	2	U	U	U	U	U	6	6	0.8	0.2	U	U	U	5	6
Development
Intellectual disability	+	+	+	+	+	+	+	+	+			+
Hearing loss										+
Short stature		+				+
Low birth weight							+		+	+				+	+
Delayed or no language	+						+								+
Feeding difficulties									+
Neurological
Hypotonia	+	+													+
Hypertonia		+
Craniofacial features
Facial asymmetry	+			+
Microcephaly		+
Low anterior or posterior hairline		+				+		+		+					+
Frontal bossing				+								+			+
Synophrys										+
Low set ears	+								+	+					+
Large ears		+								+
Bulbous nose tip										+
Broad or depressed nasal bridge		+		+						+		+			+
High or cleft palate		+		+		+								+
Broad mouth		+
Micrognathia						+
Downward slanting palpebral fissures						+			+	+				+	+
Strabismus								+		+		+		+	+
Small eyes	+											+
Hypertelorism									+			+
Amblyopia								+
Epicanthal folds												+		+
Other
Gastroesophageal reflux								+	+
Congenital heart defect	+						+		+	+				+	+
Hepatomegaly	+
Scoliosis	+									+
Distal limbs abnormalities	+			+			+							+
Clinodactoly of the fifth finger		+
Palmar crease		+												+	+

ISSN: 1755-8166